CARE for RARE is a nation-wide research program focusing on the improvement of both the diagnosis and treatment of rare diseases. Led out of the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, Canada, CARE for RARE includes 21 academic sites across the country, and is recognized internationally as a pioneer in the field of genomics and personalized medicine.

Its team uses state of the art DNA sequencing technology to identify new rare disease genes for patients across Canada and around the world, and develops novel therapeutic approaches. Together, 80 physicians and 50 scientists work to advance rare disease research as part of the CARE for RARE program.

Currently, 25% rare disease patients wait 5-30 years for a diagnosis; 40% initially receive a misdiagnosis; and half will never receive a diagnosis. In contrast, the evidence-based approach being developed by CARE for RARE will result in an accurate rapid diagnosis for many affected by rare disease. Securing a clear diagnosis means that patients and families can make future projections about their healthcare, tap into best practice guidelines, seek reproductive counseling, and potentially start therapies.

In addition, only 5% of children with rare disease have access to an effective treatment. By investigating approved drugs for effectiveness in other diseases, CARE for RARE hopes to identify novel therapies for some of those currently without any treatment.

Leadership

Dr. Kym Boycott is a Medical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO) and Clinician Scientist at the CHEO Research Institute. She is a Professor of Pediatrics and holds a Tier II Research Chair in Neurogenetics from the Faculty of Medicine at the University of Ottawa. She has been the recipient of the Canadian Institutes of Health Research Clinical Investigatorship Award from the Institute of Genetics, the SickKids Foundation Young Investigator Award and the Basil O’Connor March of Dimes Young Investigator Award. Dr. Boycott moves the international rare disease agenda forward through her role as the Chair of the Diagnostics Committee of the International Rare Disease Research Consortium.

Dr. Alex MacKenzie is a principal investigator at the CHEO Research Institute and a Professor in the Department of Medicine at the University of Ottawa. He is a specialist in the field of Spinal Muscular Atrophy, where he has published extensively in the areas of molecular genetics of pediatric disease. Dr. MacKenzie's team is developing a strategic toolbox and preclinical research pathway for inherited disorders and orphan diseases. The lab has identified gene subsets for three disorders – Duchenne Muscular Dystrophy, Myotonic Dystrophy, and Spinal Muscular Atrophy – and the goal is to broaden the research to include other genetic disorders.